Incidental Mutation 'R5921:Pafah2'
ID 461567
Institutional Source Beutler Lab
Gene Symbol Pafah2
Ensembl Gene ENSMUSG00000037366
Gene Name platelet-activating factor acetylhydrolase 2
Synonyms 2310074E22Rik
MMRRC Submission 044118-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5921 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 134123631-134154723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 134145380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 255 (V255L)
Ref Sequence ENSEMBL: ENSMUSP00000101496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105869] [ENSMUST00000105870]
AlphaFold Q8VDG7
Predicted Effect probably benign
Transcript: ENSMUST00000105869
AA Change: V230L

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000101495
Gene: ENSMUSG00000037366
AA Change: V230L

DomainStartEndE-ValueType
Pfam:PAF-AH_p_II 1 379 4.7e-157 PFAM
Pfam:Chlorophyllase2 92 263 4.4e-9 PFAM
Pfam:Abhydrolase_5 102 313 1.2e-16 PFAM
Pfam:Abhydrolase_6 103 276 7.2e-9 PFAM
Pfam:Peptidase_S9 200 265 1.8e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105870
AA Change: V255L

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000101496
Gene: ENSMUSG00000037366
AA Change: V255L

DomainStartEndE-ValueType
Pfam:PAF-AH_p_II 26 404 8e-157 PFAM
Pfam:DLH 116 342 1.1e-6 PFAM
Pfam:Abhydrolase_5 127 338 4.8e-17 PFAM
Pfam:Peptidase_S9 226 291 5.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145626
Meta Mutation Damage Score 0.1214 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 95% (70/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this lipase exhibits a broader substrate specificity than simply platelet activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased sensitivity to hepatic injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 G A 5: 35,969,555 (GRCm39) V223M probably damaging Het
Adamts7 T C 9: 90,070,747 (GRCm39) S623P probably benign Het
Aqp7 G T 4: 41,036,093 (GRCm39) N48K probably benign Het
Asic4 A G 1: 75,428,017 (GRCm39) N181S probably benign Het
Blvra A T 2: 126,929,283 (GRCm39) probably benign Het
Bmf C A 2: 118,363,034 (GRCm39) probably benign Het
Bnc2 A T 4: 84,211,292 (GRCm39) I454N possibly damaging Het
Catsperg1 A T 7: 28,889,948 (GRCm39) L700H possibly damaging Het
Ccdc14 T C 16: 34,526,761 (GRCm39) V222A probably damaging Het
Cfap97d2 G T 8: 13,784,840 (GRCm39) A34S probably damaging Het
Clstn3 A T 6: 124,408,539 (GRCm39) probably benign Het
Col15a1 A T 4: 47,300,602 (GRCm39) I1066F probably damaging Het
Dcdc2c T C 12: 28,574,774 (GRCm39) E116G possibly damaging Het
Dop1a G A 9: 86,383,975 (GRCm39) S310N probably damaging Het
Dync1h1 T A 12: 110,584,802 (GRCm39) V735E probably damaging Het
Eva1a T C 6: 82,069,140 (GRCm39) Y156H probably damaging Het
Fbxw26 A G 9: 109,575,086 (GRCm39) I13T probably damaging Het
Fermt2 A T 14: 45,702,203 (GRCm39) L527Q probably damaging Het
Fxyd4 G A 6: 117,913,099 (GRCm39) probably benign Het
Gal A G 19: 3,460,100 (GRCm39) S124P probably damaging Het
Glmp T C 3: 88,233,283 (GRCm39) S56P probably benign Het
Gm5600 T C 7: 113,307,413 (GRCm39) noncoding transcript Het
Golga2 A G 2: 32,187,767 (GRCm39) N194S probably benign Het
Gon4l T C 3: 88,817,254 (GRCm39) probably benign Het
Gtf2ird2 T A 5: 134,246,426 (GRCm39) Y895N probably damaging Het
Hsd3b1 C A 3: 98,765,215 (GRCm39) M22I probably benign Het
Ipo13 A C 4: 117,769,286 (GRCm39) L169V probably benign Het
Kif13a G T 13: 46,978,776 (GRCm39) T208K probably damaging Het
Klhl5 G T 5: 65,320,299 (GRCm39) A618S probably damaging Het
Lrig2 A T 3: 104,370,070 (GRCm39) L496* probably null Het
Macf1 A G 4: 123,420,504 (GRCm39) I250T probably benign Het
Man1a A G 10: 53,783,606 (GRCm39) I632T probably damaging Het
Nav2 A G 7: 48,954,324 (GRCm39) probably benign Het
Nek8 A G 11: 78,063,885 (GRCm39) M40T probably damaging Het
Oas3 T C 5: 120,908,046 (GRCm39) D298G probably damaging Het
Ociad1 A G 5: 73,467,725 (GRCm39) D167G probably benign Het
Or14j4 A T 17: 37,921,110 (GRCm39) C177* probably null Het
Or8s5 T C 15: 98,238,310 (GRCm39) T187A probably benign Het
Or9s13 T A 1: 92,548,344 (GRCm39) S239T probably benign Het
Pde10a A G 17: 9,149,369 (GRCm39) Y407C probably damaging Het
Pirb A C 7: 3,719,693 (GRCm39) Y484* probably null Het
Prl8a6 A G 13: 27,621,171 (GRCm39) S20P probably damaging Het
R3hdm4 A T 10: 79,749,453 (GRCm39) V52E probably damaging Het
Rab3ip A G 10: 116,775,152 (GRCm39) Y69H probably damaging Het
Rxrg T C 1: 167,466,808 (GRCm39) M330T possibly damaging Het
Sema4g G T 19: 44,987,143 (GRCm39) G460V probably benign Het
Sidt1 T C 16: 44,094,098 (GRCm39) probably benign Het
Slc12a2 T A 18: 58,065,595 (GRCm39) D943E probably benign Het
Slc12a4 T C 8: 106,671,876 (GRCm39) probably null Het
Slc4a3 T G 1: 75,534,088 (GRCm39) probably null Het
Slc4a8 C T 15: 100,712,328 (GRCm39) probably benign Het
Srcap T A 7: 127,158,005 (GRCm39) probably benign Het
Stk39 A G 2: 68,196,449 (GRCm39) S327P probably damaging Het
Tbc1d5 G A 17: 51,270,721 (GRCm39) T170M probably damaging Het
Trim13 T A 14: 61,842,538 (GRCm39) F185Y probably benign Het
Ttc17 A G 2: 94,209,193 (GRCm39) V87A probably damaging Het
Ttn A T 2: 76,551,207 (GRCm39) M31395K possibly damaging Het
Usp34 T A 11: 23,414,686 (GRCm39) D2876E probably damaging Het
Uvssa T C 5: 33,547,096 (GRCm39) S221P probably benign Het
Vmn2r93 T A 17: 18,546,030 (GRCm39) L634Q probably damaging Het
Vmp1 C T 11: 86,477,336 (GRCm39) A355T probably benign Het
Xpo5 A T 17: 46,532,347 (GRCm39) M461L probably benign Het
Zfp759 T A 13: 67,288,558 (GRCm39) F703Y probably damaging Het
Other mutations in Pafah2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03283:Pafah2 APN 4 134,145,408 (GRCm39) missense probably damaging 1.00
R0368:Pafah2 UTSW 4 134,149,802 (GRCm39) missense probably benign 0.37
R1456:Pafah2 UTSW 4 134,131,468 (GRCm39) missense probably damaging 1.00
R1765:Pafah2 UTSW 4 134,140,758 (GRCm39) missense probably benign 0.04
R1846:Pafah2 UTSW 4 134,152,852 (GRCm39) frame shift probably null
R1847:Pafah2 UTSW 4 134,152,852 (GRCm39) frame shift probably null
R1848:Pafah2 UTSW 4 134,152,852 (GRCm39) frame shift probably null
R2984:Pafah2 UTSW 4 134,139,182 (GRCm39) missense possibly damaging 0.94
R6088:Pafah2 UTSW 4 134,140,692 (GRCm39) missense probably benign 0.02
R7289:Pafah2 UTSW 4 134,147,308 (GRCm39) missense probably damaging 1.00
R9128:Pafah2 UTSW 4 134,147,281 (GRCm39) missense probably damaging 1.00
R9202:Pafah2 UTSW 4 134,131,440 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AAGCAAGTTAGTCGGTGTGG -3'
(R):5'- CTTCCATCATCACCACTGAATG -3'

Sequencing Primer
(F):5'- TGTGGCACCCTATCCCG -3'
(R):5'- CCAGAACTCAACCCTTGTGTG -3'
Posted On 2017-02-28